Fatty acyl-CoA reductase 1 deficiency 1237619001
SNOMED CT code
| SNOMED code | 1237619001 |
|---|---|
| name | Fatty acyl-CoA reductase 1 deficiency |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Fatty acyl-coenzyme A reductase 1 deficiency (disorder) |
| synonyms |
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| attributes - group4 | |
| Finding site | Cerebrum 83678007 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group1 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group2 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group6 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Below reference range 281300000 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of peroxisomal function 238059005 Loss of single peroxisomal function 238066006 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Severe mental retardation (I.Q. 20-34) 40700009 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Fatty acyl-CoA reductase 1 deficiency 1237619001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Fatty acyl-CoA reductase 1 deficiency 1237619001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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